Genomic imprinting
Gene: NLRP5

NLRP5 (NLR family pyrin domain containing 5)
EnsemblGeneIds (GRCh38): ENSG00000171487
EnsemblGeneIds (GRCh37): ENSG00000171487
OMIM: 609658, Gene2Phenotype
NLRP5 is in 3 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #620333) and the OMIM record was last accessed on 18 December 2025.
Created: 18 Dec 2025, 10:05 p.m. | Last Modified: 18 Dec 2025, 10:05 p.m.

Panel Version: 0.156

Created: 18 Dec 2025, 10:05 p.m.
Last Modified: 18 Dec 2025, 10:05 p.m.
Panel version: 0.156

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: Review from Eamonn Maher: I think it would be better that these are maternal effect genes for which biallelic variants in a healthy women cause a reproductive phenotype that may include miscarriage, hydatidiform mole or children with a congenital imprinting disorder
Created: 21 Apr 2021, 2:41 p.m. | Last Modified: 21 Apr 2021, 2:41 p.m.

Panel Version: 0.95

Comments from Prof Ian Morison (Department of Pathology, University of Otago) NLRP5 is a component of the subcortical maternal complex. Required for the establishment of imprinting, but not imprinted itself.
Created: 2 Feb 2021, 5:36 p.m. | Last Modified: 2 Feb 2021, 5:36 p.m.

Panel Version: 0.84

Comment on list classification: Based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust) for the involvement of NLRP5 variants in Multi Locus Imprinting Disturbances.
Created: 2 Feb 2021, 2:45 p.m. | Last Modified: 2 Feb 2021, 2:45 p.m.

Panel Version: 0.72

Comment on mode of inheritance: MOI based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust).
Created: 2 Feb 2021, 2:33 p.m. | Last Modified: 2 Feb 2021, 2:33 p.m.

Panel Version: 0.68

Created: 2 Feb 2021, 2:33 p.m.
Last Modified: 2 Feb 2021, 2:33 p.m.
Panel version: 0.84

Ellen McDonagh (Genomics England Curator)

http://www.imprinting-disorders.eu/?page_id=1112. This is (c) gene whose mutation deranges imprinting in trans.
Created: 4 May 2017, 2:37 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Phenotypes
Phenotype resulting from under expression: Biparental complete hydatidiform mole, Beckwith-Wiedemann Syndrome, Multi-locus imprinting disorder; Affected tissue: all

Publications

PMID: 26323243

Created: 4 May 2017, 2:37 p.m.

Panel version: 0.1

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

Expert Review Green
Imprinting GeCIP Subdomain

Phenotypes

Oocyte/zygote/embryo maturation arrest 19, OMIM:620333
oocyte/zygote/embryo maturation arrest 19, MONDO:0957231

OMIM

609658

Clinvar variants

Variants in NLRP5

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

18 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: NLRP5 were changed from Phenotype resulting from under expression: Biparental complete hydatidiform mole, Beckwith-Wiedemann Syndrome, Multi-locus imprinting disorder; Affected tissue: all to Oocyte/zygote/embryo maturation arrest 19, OMIM:620333; oocyte/zygote/embryo maturation arrest 19, MONDO:0957231

17 Feb 2022, Gel status: 3